Variant report

Variant	rs10249282
Chromosome Location	chr7:117411796-117411797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr7:117411604-117411818	K562	blood:	n/a	chr7:117411731-117411747 chr7:117411732-117411746 chr7:117411736-117411745 chr7:117411735-117411745
2	MAFK	chr7:117411729-117411832	HepG2	liver:	n/a	chr7:117411731-117411747 chr7:117411732-117411746 chr7:117411736-117411745 chr7:117411735-117411745

Variant related genes	Relation type
CTTNBP2	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10227037	1.00[ASN][1000 genomes]
rs10231200	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235887	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249647	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10250116	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258876	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277715	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279510	1.00[ASN][1000 genomes]
rs10487375	0.85[TSI][hapmap]
rs11505934	1.00[ASN][1000 genomes]
rs11767812	0.86[TSI][hapmap]
rs17140401	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140426	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140428	1.00[ASN][1000 genomes]
rs28403532	1.00[ASN][1000 genomes]
rs28458827	1.00[ASN][1000 genomes]
rs28460732	1.00[ASN][1000 genomes]
rs28491601	1.00[ASN][1000 genomes]
rs28626909	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28744472	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34090296	1.00[ASN][1000 genomes]
rs34128994	1.00[ASN][1000 genomes]
rs34184681	1.00[ASN][1000 genomes]
rs34242801	1.00[ASN][1000 genomes]
rs34338088	1.00[ASN][1000 genomes]
rs34469059	1.00[ASN][1000 genomes]
rs34491454	1.00[ASN][1000 genomes]
rs34505144	1.00[ASN][1000 genomes]
rs34680574	1.00[ASN][1000 genomes]
rs34739284	1.00[ASN][1000 genomes]
rs34782757	1.00[ASN][1000 genomes]
rs34844482	1.00[ASN][1000 genomes]
rs35160894	1.00[ASN][1000 genomes]
rs35191087	1.00[ASN][1000 genomes]
rs35280089	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35309708	1.00[ASN][1000 genomes]
rs35349079	1.00[ASN][1000 genomes]
rs35410407	1.00[ASN][1000 genomes]
rs35441392	1.00[ASN][1000 genomes]
rs35492426	1.00[ASN][1000 genomes]
rs35522360	1.00[ASN][1000 genomes]
rs35618845	1.00[ASN][1000 genomes]
rs35714028	1.00[ASN][1000 genomes]
rs35720191	1.00[ASN][1000 genomes]
rs35731674	1.00[ASN][1000 genomes]
rs35774527	1.00[ASN][1000 genomes]
rs35813124	1.00[ASN][1000 genomes]
rs35838987	1.00[ASN][1000 genomes]
rs35894760	1.00[ASN][1000 genomes]
rs35918397	1.00[ASN][1000 genomes]
rs35997432	1.00[ASN][1000 genomes]
rs36011009	1.00[ASN][1000 genomes]
rs36036225	1.00[ASN][1000 genomes]
rs6466623	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs6946763	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954037	1.00[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962570	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971495	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6977929	1.00[CEU][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781185	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781470	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800765	1.00[ASN][1000 genomes]
rs916931	0.86[TSI][hapmap]
rs9969206	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10249282	MDFIC	cis	parietal	SCAN
rs10249282	ST7	cis	parietal	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117354800-117417200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:117356200-117431400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:117375200-117431600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:117391200-117413400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:117396400-117450200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:117396600-117431200	Weak transcription	Aorta	Aorta
7	chr7:117396800-117421000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:117397000-117431200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:117397000-117431200	Weak transcription	Fetal Intestine Small	intestine
10	chr7:117397000-117431600	Weak transcription	Ovary	ovary
11	chr7:117397200-117421400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:117397200-117431200	Weak transcription	Pancreas	Pancrea
13	chr7:117398600-117431200	Weak transcription	Fetal Stomach	stomach
14	chr7:117399000-117412000	Weak transcription	NHLF	lung
15	chr7:117399400-117412000	Weak transcription	Right Atrium	heart
16	chr7:117400800-117431200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:117401400-117434000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:117402400-117419200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:117405000-117419600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:117405800-117418400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:117406000-117412000	Weak transcription	Fetal Brain Male	brain
22	chr7:117407600-117411800	Weak transcription	Fetal Kidney	kidney
23	chr7:117409200-117414800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:117409200-117415200	Weak transcription	Fetal Heart	heart
25	chr7:117409200-117416200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:117409200-117416800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:117409400-117415400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:117409400-117416000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:117409600-117413200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:117409600-117413200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:117409600-117413400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:117409800-117433400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:117410000-117416400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:117410200-117418400	Strong transcription	Fetal Brain Female	brain
35	chr7:117410400-117411800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr7:117410400-117412400	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr7:117410400-117412400	Strong transcription	Esophagus	oesophagus
38	chr7:117410400-117418000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:117410600-117412400	Enhancers	Brain Cingulate Gyrus	brain
40	chr7:117410600-117412600	Enhancers	Brain Hippocampus Middle	brain
41	chr7:117410600-117413400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:117410800-117412000	Weak transcription	Adipose Nuclei	Adipose
43	chr7:117410800-117412200	Enhancers	Left Ventricle	heart
44	chr7:117411000-117412200	Enhancers	Lung	lung
45	chr7:117411000-117412400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:117411200-117412000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:117411200-117414200	Strong transcription	Brain Germinal Matrix	brain
48	chr7:117411400-117411800	Enhancers	Brain Angular Gyrus	brain
49	chr7:117411400-117412000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:117411400-117412200	Strong transcription	H9 Cell Line	embryonic stem cell

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